ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.467G>A (p.Trp156Ter)

dbSNP: rs876658159
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784892 SCV000923429 pathogenic Ataxia-telangiectasia syndrome 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000784892 SCV001215915 pathogenic Ataxia-telangiectasia syndrome 2023-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp156*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 634428). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Color Diagnostics, LLC DBA Color Health RCV001805849 SCV002053709 pathogenic Hereditary cancer-predisposing syndrome 2021-03-08 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 5 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV004027332 SCV004931830 pathogenic Familial cancer of breast 2024-01-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Natera, Inc. RCV000784892 SCV002093919 pathogenic Ataxia-telangiectasia syndrome 2020-10-13 no assertion criteria provided clinical testing

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